Skeletal Dysplasia
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Top Contributors - Ayodeji Mark-Adewunmi and Kim Jackson
Introduction[edit | edit source]
Skeletal dysplasias also termed as osteochondrodysplasias are a large heterogeneous group of disorders comprising of abnormalities of bone or cartilage growth or texture. Skeletal dysplasia is a group of rare genetic disorders that affect bone growth and development. These disorders are characterized by abnormalities in the size, shape, and structure of bones, resulting in short stature, limb deformities, and other skeletal abnormalities.
They occur due to genetic mutations and their phenotype continues to evolve throughout life. Skeletal dysplasias thus differ from dysostoses which are malformations of single or multiple bones in combination, are due to abnormal blastogenesis in-utero and phenotypically remain static throughout life.[1]
Epidemiology[edit | edit source]
About 1 in 5,000 babies are born with some type of skeletal dysplasia.[2] Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection.
Etiology[edit | edit source]
Skeletal dysplasia is caused by mutations in genes that are responsible for bone growth and development. These mutations can be inherited from one or both parents, or they can occur spontaneously during fetal development.
Clinical Signs and Symptoms[edit | edit source]
The symptoms of skeletal dysplasia can vary widely depending on the specific type of disorder and the severity of the condition. However, some common symptoms include:
Short stature: Individuals with skeletal dysplasia are typically shorter than average for their age and gender.
Limb deformities: Skeletal dysplasia can cause abnormalities in the size and shape of the limbs, including bowed legs, knock-knees, and curved spine.
Joint pain: Skeletal dysplasia can cause joint pain and stiffness, particularly in the hips and knees.
Breathing difficulties: In some cases, skeletal dysplasia can cause narrowing of the airways, leading to breathing difficulties.
Dental abnormalities: Some types of skeletal dysplasia can cause abnormalities in the teeth, including missing or misshapen teeth.
References[edit | edit source]
- ↑ Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?. Pediatric radiology. 2003 Mar;33:153-61.
- ↑ Geister KA, Camper SA. Advances in skeletal dysplasia genetics. Annual review of genomics and human genetics. 2015 Aug 24;16:199-227.
